Publications by authors named "N Cerf-Bensussan"

Vesicle trafficking and the establishment of apicobasal polarity are essential processes in epithelial morphogenesis. UNC45A deficiency has been reported in a multi-organ syndrome presenting with severe diarrhea associated with enterocyte polarity defects. Myosin 1b, an actin motor able to bind membranes, regulates membrane shaping and vesicle trafficking.

View Article and Find Full Text PDF
Article Synopsis
  • Integrin alpha V is crucial for cell adhesion and signaling during development, and mutations in its gene (ITGAV) can lead to serious health issues.
  • In three families, biallelic variants were found that caused either dysfunctional protein production or the integrin being misplaced, resulting in severe developmental problems like eye and brain abnormalities, inflammatory bowel disease, and immune issues.
  • Studies in patient cells and zebrafish models confirmed these mutations resulted in impaired immune signaling and developmental defects, linking the ITGAV variants to a newly identified human disease.
View Article and Find Full Text PDF

The critical importance of the immunoregulatory mechanisms, which prevent adverse responses to dietary proteins is demonstrated by the consequences of their failure in two common but distinct human pathological conditions, food allergy and celiac disease. The mechanisms of tolerance to dietary proteins have been extensively studied in mouse models but the extent to which the results in mice can be extrapolated to humans remains unclear. Here, after summarizing the mechanisms known to control oral tolerance in mouse models, we discuss how the monogenic immune disorders associated with food allergy on the one hand, and celiac disease, on the other hand, represent model diseases to gain insight into the key immunoregulatory pathways that control immune responses to food antigens in humans.

View Article and Find Full Text PDF

The proximal part of the small intestine, including duodenum and jejunum, is not only dedicated to nutrient digestion and absorption but is also a highly regulated immune site exposed to environmental factors. Host-protective responses against pathogens and tolerance to food antigens are essential functions in the small intestine. The cellular ecology and molecular pathways to maintain those functions are complex.

View Article and Find Full Text PDF